ClinVar Miner

Submissions for variant NM_130839.5(UBE3A):c.1482T>C (p.Asn494=)

gnomAD frequency: 0.00004  dbSNP: rs776564692
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel RCV000805190 SCV003934939 likely benign Angelman syndrome 2023-06-16 reviewed by expert panel curation The c.1422T>C p.Asn474= variant in UBE3A (NM_130838.2) is present in gnomAD v2.1.1 at a frequency of 0.0062% in the European (non-Finnish) sub population (no criteria met). The silent p.Asn474= variant is not predicted to affect splicing using multiple computational tools and does not affect a highly conserved nucleotide (BP4, BP7). In summary, the c.1422T>C p.Asn474= variant in UBE3A is classified as Likely Benign based on the ACMG/AMP criteria (BP4, BP7).
Labcorp Genetics (formerly Invitae), Labcorp RCV000805190 SCV000945137 likely benign Angelman syndrome 2024-04-17 criteria provided, single submitter clinical testing
GeneDx RCV001637993 SCV001852554 likely benign not provided 2020-10-23 criteria provided, single submitter clinical testing

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